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J Am Acad Dermatol. 2002 Dec;47(6):856-62.
Primary follicular mucinosis: long-term follow-up of patients younger than 40 years with and without clonal T-cell receptor gene rearrangement.

Brown HA, Gibson LE, Pujol RM, Lust JA, Pittelkow MR.

Department of Dermatology and Section of Dermatopathology, Mayo Clinic, Rochester 55905, USA.

Since the original descriptions of follicular mucinosis, accumulating experience shows that patient age, distribution of lesions, and duration or extent of disease do not reliably distinguish benign primary follicular mucinosis from secondary follicular mucinosis, associated with cutaneous lymphoma. More recently, it has been suggested that individuals with follicular mucinosis demonstrating a clonal T-cell receptor gene rearrangement may be at higher risk for the development of lymphoma. Long-term follow-up of 7 patients younger than 40 years with primary follicular mucinosis are reported. In all cases, there was no clinical or histologic evidence of associated dermatoses or lymphoma at the time of diagnosis. Five of the patients have clonal T-cell gene rearrangement as determined by Southern blot analysis. Clinically, at the time of diagnosis, lesions of primary follicular mucinosis ranged from papules confined to the face to widespread cutaneous plaques. After a mean follow-up of 10 years (range, 5-23 years) from the onset of disease, the majority of patients continue to have cutaneous manifestations of follicular mucinosis despite various treatments. There is no evidence of progression to cutaneous T-cell lymphoma in any patient despite the presence of a clonal T-cell receptor gene rearrangement. Continued prolonged follow-up of patients with clonal primary follicular mucinosis is necessary to determine the significance of infiltrates harboring a T-cell receptor gene rearrangement. However, in our experience with this group of selected patients, primary follicular mucinosis has been a clonal disorder with limited or "benign" cutaneous manifestations.

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BACKGROUND: Alopecia areata is believed to be an autoimmune condition with a worldwide occurrence. It usually presents as patchy, nonscarring hair loss. There is a paucity of clinical data in Asians. OBJECTIVE: To study the epidemiology, clinical aspects, associations, and treatment of alopecia areata in an Asian population over a 1-year period. METHODS: Records of all newly diagnosed alopecia areata cases seen from May 1998 to April 1999 at the National Skin Center were collated with regard to the epidemiology, pattern of alopecia, and associations according to the investigational guidelines published by Oslen et al. The treatment and psychologic impact of alopecia areata were also assessed. RESULTS: Two hundred and nineteen new case referrals of alopecia areata were seen from May 1998 to April 1999. The incidence of alopecia areata was 3.8%. There were 173 Chinese (79%), 35 Indians (16%), and 11 Malays (5.0%). The male to female ratio was 1 : 1.3. The median age at presentation was 25.2 years. The majority of patients (85.5%) had their first episode of alopecia areata before the age of 40 years. Of the patients with onset of alopecia areata before the age of 40 years, 36.5% presented with extensive alopecia, compared with 5.5% above the age of 40 years (P < 0.05). Nail changes, consisting of pitting, trachyonychia, and longitudinal ridging, were reported in 23 patients (10.5%). A significant percentage of patients had an associated personal and family history of atopy (60.7%). There was no significant association between a personal history of atopy and the extent of alopecia areata. The frequencies reported for the following associated diseases were: thyroid disease, 2.3%; vitiligo, 4.1%; diabetes mellitus, 3.2%; Down's syndrome, 1.4%; and rheumatic arthritis, 0.9%. A family history of alopecia areata was reported in 4.6%. Intralesional triamcinolone acetonide was the first-line treatment for limited alopecia areata, while squaric acid dibutyl ester was used for extensive involvement. The majority of patients with limited alopecia areata (82.1%) had more than 50% improvement with intralesional triamcinolone acetonide after 3 months. The majority of patients who received squaric acid dibutyl ester (87.5%) achieved more than 50% regrowth at the end of 6 months. Poor prognostic factors for alopecia areata were extensive involvement, early age of onset, and Down's syndrome. Thirteen out of 132 respondents (9.8%) recalled stressful events preceding hair loss. Patients with extensive alopecia areata experienced more psychologic adverse effects than those with limited alopecia areata (P < 0.05). Males with extensive alopecia areata experienced more severe psychologic ill-effects, such as depression and feelings of inability to improve hair loss. CONCLUSIONS: Our findings are similar to those reported in the Western literature where alopecia areata is predominantly a disease of the young. A holistic approach is important in the management of alopecia areata as the disease can have a severe psychologic impact on an individual's well-being.

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A pair of mutant mice with a first sparse coat appeared spontaneously in the production stock of BALB/c mice with a normal coat. After being sib-mated, they produced three phenotypes in their progeny: mice with normal hair, mice with a first sparse coat and then a fuzzy coat, and uncovered mice. Genetic studies revealed the mutants had inherited an autosomal monogene that was semi-dominant. By using 11 biochemical loci--Idh, Car2, Mup1, Pgm1, Hbb, Es1, Es10, Gdc, Ce2, Mod1 and Es3--as genetic markers, two-point linkage tests were made. The results showed the gene was assigned to chromosome 11. The result of a three-point test with Es3 and D11Mit8 (microsatellite DNA) as markers showed that the mutation was linked to Es3 with the recombination fraction 7.89 +/- 2.19%, and linked to D11Mit8 with the recombination fraction 26.30 +/- 3.57%. The recombination fraction between Es3 and D11Mit8 was 32.90 +/- 3.81%. It is suggested that the mutation is a new genetic locus that affected the skin and hair structure of the mouse. The mutation was named uncovered, with the symbol Uncv. Further studies showed the mutation affected not only the histology of skin and hair but also the growth and reproductive performance of the mice. The molecular characterization of the Uncv locus needs to be further studied.

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